The term Menkes Disease is also referred to as Menkes Syndrome that is defined as a X-linked recessive disorder that has an affect on your copper levels. In most cases the disease begins right at infancy and may continue through life. Such infants or children would have a sagging muscle tone and facial features. They would also have issues like seizure, developmental decay, etc.
HOW IS MENKES DISEASE DIAGNOSED?
Diagnosis of Menkes Disease is based on the detection of copper levels and ceruloplasmin in blood plasma. But these tests are not reliable in newborn phase. Molecular genetic testing confirms diagnosis.
HOW IS MENKES DISEASE TREATED?
Treatment is mainly symptomatic. Early parenteral copper-histidine supplementation may modify disease progression and some symptoms by providing extra copper to tissue and to copper-dependent enzymes. Oral administration of copper is ineffective as it is trapped in the intestines.
DID YOU KNOW?
Research shows that infants identified with symptoms earlier and provided recommended therapy respond the best to the same and are able to lead almost regular lives too.